BRCA 基因突变检测在乳腺癌治疗中的应用。
BRCA mutation testing in determining breast cancer therapy.
机构信息
Department of Medicine, Division of Hematology and Oncology, Washington Cancer Institute, Washington Hospital Center, Washington, DC, USA.
出版信息
Cancer J. 2011 Nov-Dec;17(6):492-9. doi: 10.1097/PPO.0b013e318238f579.
Abstract
BRCA mutation-associated breast cancer differs from sporadic breast cancer with regard to future cancer risks and sensitivity to systemic therapies. Now that rapid genetic testing for BRCA1 and BRCA2 mutations is available at the time of breast cancer diagnosis, BRCA mutation status can be considered when making treatment and prevention decisions for BRCA mutation carriers with breast cancer. This article reviews surgical options for management of affected BRCA mutation carriers with emphasis on the risks of ipsilateral recurrence and contralateral breast cancer. The roles of breast-conserving surgery, prophylactic mastectomy, and oophorectomy are reviewed. In addition, the sensitivity of BRCA mutation-associated breast cancer to endocrine therapy, platinum chemotherapy, and poly (ADP-ribose) polymerase inhibitors is reviewed.
摘要
BRCA 基因突变相关乳腺癌与散发性乳腺癌在未来癌症风险和对全身治疗的敏感性方面存在差异。现在，在乳腺癌诊断时可进行 BRCA1 和 BRCA2 基因突变的快速基因检测，因此在为乳腺癌 BRCA 基因突变携带者做出治疗和预防决策时可以考虑 BRCA 突变状态。本文综述了影响 BRCA 基因突变携带者的手术选择，重点是同侧复发和对侧乳腺癌的风险。回顾了保乳手术、预防性乳房切除术和卵巢切除术的作用。此外，还回顾了 BRCA 基因突变相关乳腺癌对内分泌治疗、铂类化疗和聚（ADP-核糖）聚合酶抑制剂的敏感性。
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